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First successful bone marrow transplantation for X-linked chronic granulomatous disease by using preimplantation female gender typing and HLA matching

Reichenbach, Janine
Van de Velde, Hilde
De Rycke, Martine
Staessen, Catherine
Platteau, Peter
Baetens, Patricia
Gungor, Tayfun
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Published in Pediatrics. 2008, vol. 122, no. 3, p. e778-782
Abstract Allogeneic hematopoietic stem cell transplantation from an human leukocyte antigen (HLA)-identical donor is currently the only proven curative treatment for chronic granulomatous disease. Hematopoietic stem cell transplantation with alternative donors is associated with higher morbidity and mortality. Therefore, we performed in vitro fertilization and preimplantation HLA matching combined with female sexing for hematopoietic stem cell transplantation in chronic granulomatous disease. Ethical and psychological issues were considered carefully. We used in vitro fertilization with X-enriched spermatozoa followed by preimplantation genetic diagnosis to identify female HLA-genoidentical embryos in a family in need of a suitable donor for their boy affected with severe X-linked chronic granulomatous disease. Two preimplantation genetic diagnosis cycles were performed in the family. In the second cycle, 2 HLA-genoidentical female embryos were transferred and a singleton pregnancy was obtained, resulting in the birth of an unaffected girl at term. Because of insufficient cell numbers in the cord-blood source, conventional hematopoietic stem cell transplantation had to be performed at 12 months of age of the donor and 5 years of age of the recipient and resulted in complete stable donor chimerism and immunologic reconstitution up to 25 months post-hematopoietic stem cell transplantation. Hematopoietic stem cell transplantation after in vitro fertilization and combined female sexing and HLA matching offers a new and relatively rapid therapeutic option for patients with X-linked primary immunodeficiency such as chronic granulomatous disease who need hematopoietic stem cell transplantation but lack an HLA-genoidentical donor.
Keywords AdultBone Marrow Transplantation/*methodsChild, PreschoolFemaleFollow-Up StudiesGranulomatous Disease, Chronic/diagnosis/immunology/*surgeryHLA Antigens/*immunologyHistocompatibility Testing/*methodsHumansInfantMalePregnancyPreimplantation Diagnosis/*methodsReplantation/*methods
PMID: 18762514
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Research group Groupe Ozsahin Ayse Hulya (onco-hémato pédiatrie) (889)
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REICHENBACH, Janine et al. First successful bone marrow transplantation for X-linked chronic granulomatous disease by using preimplantation female gender typing and HLA matching. In: Pediatrics, 2008, vol. 122, n° 3, p. e778-782. doi: 10.1542/peds.2008-0123 https://archive-ouverte.unige.ch/unige:19205

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Deposited on : 2012-03-27

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